E3D (p.Glu3Asp) variant of POLR1D (P0DPB6)
E3D (p.Glu3Asp) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E3D (p.Glu3Asp) variant details
- p.Glu3Asp
- Ensembl rs2138515151
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.35
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.18
- Population evidence available
- Structural context available